Cellosaurus cell line ND12329 (CVCL

Cross-references
Cell line name	ND12329
Accession	CVCL_BK24
Resource Identification Initiative	To cite this cell line use: ND12329 (RRID:CVCL_BK24)
Comments	Population: Caucasian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12666; VCP; Simple; p.Asn387Thr (c.1160A>C) (c.1549A>C); ClinVar=VCV000448854; Zygosity=Heterozygous (PubMed=22572540).
Disease	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (NCIt: C168754) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	62Y
Category	Transformed cell line
Publications	PubMed=22572540; DOI=10.1016/j.neurobiolaging.2012.04.005; PMCID=PMC3391327 Yevgeniya Abramzon, Janel O. Johnson, Sonja W. Scholz, J. Paul Taylor, Maura Brunetti, Andrea Calvo, Jessica Mandrioli, Michael Benatar, Gabriele Mora, Gabriella Restagno, Adriano Chio, Bryan J. Traynor; Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 33:2231.e1-2231.e6(2012)
Cell line collections (Providers)	Coriell; ND12329
Cell line databases/resources	CLO; CLO_0021824
Encyclopedic resources	Wikidata; Q54924903
Entry history
Entry creation	02-May-2016
Last entry update	10-Apr-2025
Version number	11